(Q79314164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17072318%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Hereditary pancreatitis caused by triplication of the trypsinogen locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17072318%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

Cédric Le Maréchal

1

1 reference

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21 December 2019

Emmanuelle Masson

2

1 reference

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21 December 2019

Jian-Min Chen

3

1 reference

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21 December 2019

Frédéric Morel

4

1 reference

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21 December 2019

Philippe Ruszniewski

5

1 reference

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21 December 2019

Philippe Levy

6

1 reference

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21 December 2019

Claude Férec

7

1 reference

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21 December 2019

publication date

29 October 2006

1 reference

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21 December 2019

1 reference

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21 December 2019

volume

38

1 reference

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21 December 2019

page(s)

1372-1374

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21 December 2019

issue

12

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng1904

21 December 2019

exact match

0 references

cites work

The hereditary pancreatitis gene maps to long arm of chromosome 7

1 reference

7 January 2021

Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene

1 reference

7 January 2021

Biochemical models of hereditary pancreatitis

1 reference

7 January 2021

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

1 reference

7 January 2021

"Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis

1 reference

7 January 2021

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

1 reference

7 January 2021

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

1 reference

7 January 2021

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

7 January 2021

The complete 685-kilobase DNA sequence of the human beta T cell receptor locus

1 reference

7 January 2021

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

7 January 2021

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

7 January 2021

alpha-Synuclein locus triplication causes Parkinson's disease

1 reference

7 January 2021

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1904

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17072318%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference